Symbol
Name
ID

Aifm1
apoptosis-inducing factor, mitochondrion-associated 1
MGI:1349419

Phenotype annotations related to muscle

Darker colors indicate more annotations

Human Phenotypes

Distal lower limb muscle weakness

Hypotonia

Generalized hypotonia

Severe muscular hypotonia

Muscle weakness

Distal muscle weakness

Generalized muscle weakness

Respiratory insufficiency due to muscle weakness

Increased variability in muscle fiber diameter

Ragged-red muscle fibers

Skeletal muscle atrophy

Distal lower limb amyotrophy

Disease(s) Associated with AIFM1

Charcot-Marie-Tooth disease X-linked recessive 4

combined oxidative phosphorylation deficiency 6

X-linked deafness 5

Mouse Phenotypes		abnormal myocardial fiber morphology	increased myocardial fiber size	dilated cardiomyopathy	decreased cardiac muscle contractility	increased cardiomyocyte apoptosis	abnormal skeletal muscle fiber morphology	increased skeletal muscle fiber diameter	decreased skeletal muscle mass	muscle degeneration	muscular atrophy
Availability	Mouse Genotype	abnormal myocardial fiber morphology	increased myocardial fiber size	dilated cardiomyopathy	decreased cardiac muscle contractility	increased cardiomyocyte apoptosis	abnormal skeletal muscle fiber morphology	increased skeletal muscle fiber diameter	decreased skeletal muscle mass	muscle degeneration	muscular atrophy
	Aifm1^Hq/Aifm1^Hq
	Aifm1^Hq/Y
	Aifm1^tm2Pngr/Y Tg(Ckmm-cre)5Khn/0 (conditional)

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 04/16/2024 MGI 6.23